Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (> 38 kb) that included the 5′ part of the gene. © 1992 Springer-Verlag.
Renieri, A., Seri, M., Myers, J.C., Pihlajaniemi, T., Sessa, A., Rizzoni, G., et al. (1992). Alport syndrome caused by a 5' deletion within the COL4A5 gene. HUMAN GENETICS, 89(1), 120-121 [10.1007/BF00207059].
Alport syndrome caused by a 5' deletion within the COL4A5 gene
RENIERI A.;
1992-01-01
Abstract
Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (> 38 kb) that included the 5′ part of the gene. © 1992 Springer-Verlag.
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